ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.7G>T (p.Val3Leu) (rs1257347271)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000781996 SCV000920453 benign Lynch syndrome 2018-10-18 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability < 0.001 (0.0007)
Color RCV000774955 SCV000909043 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000774955 SCV001189545 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-10 criteria provided, single submitter clinical testing Insufficient evidence

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